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Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa

PloS one, 2018-12, Vol.13 (12), p.e0207958-e0207958

2018

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An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease

PloS one, 2015-02, Vol.10 (2), p.e0116680-e0116680

2015

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PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

The Journal of clinical investigation, 2010-06, Vol.120 (6), p.1812-1823

2010

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The tectonic complex regulates membrane protein composition in the photoreceptor cilium

Nature communications, 2023-09, Vol.14 (1), p.5671-5671, Article 5671

2023

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A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula

Scientific reports, 2017-05, Vol.7 (1), p.1411-10, Article 1411

2017

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Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation

Frontiers in genetics, 2017-09, Vol.8, p.130-130

2017

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Reticular Pseudodrusen in Sorsby Fundus Dystrophy

Ophthalmology (Rochester, Minn.), 2015-08, Vol.122 (8), p.1555-1562

2015

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Ophthalmic Features of Children Not Yet Diagnosed with Alstrom Syndrome

Ophthalmology (Rochester, Minn.), 2015-08, Vol.122 (8), p.1726-1727.e2

2015

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Expanding the phenotypic spectrum and clinical severity associated with WLS gene

Journal of human genetics, 2023-09, Vol.68 (9), p.607-613

2023

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A novel large in-frame FBN1 deletion causes neonatal Marfan syndrome

Cold Spring Harbor molecular case studies, 2022-10, Vol.8 (6), p.1

2022

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Peripherin mutations cause a distinct form of recessive Leber congenital amaurosis and dominant phenotypes in asymptomatic parents heterozygous for the mutation

British journal of ophthalmology, 2016-02, Vol.100 (2), p.209-215

2016

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First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene

Journal of translational medicine, 2019-10, Vol.17 (1), p.351-351, Article 351

2019

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Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations

European journal of human genetics : EJHG, 2014-02, Vol.22 (2), p.286-288

2014

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Comprehensive Geno- and Phenotyping in a Complex Pedigree Including Four Different Inherited Retinal Dystrophies

Genes, 2020-01, Vol.11 (2), p.137

2020

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Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies

Pediatric nephrology (Berlin, West), 2014-08, Vol.29 (8), p.1451-1456

2014

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NGS: Gestern, heute und morgen

Medizinische Genetik, 2019-06, Vol.31 (2), p.185-190

2019

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Reply to "Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype" by Nuovo et al

European journal of human genetics : EJHG, 2018-07, Vol.26 (7), p.930-930

Bolz, Hanno J

2018

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Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy

Scientific reports, 2018-03, Vol.8 (1), p.4824-11, Article 4824

2018

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Early-onset severe retinal dystrophy as the initial presentation of IFT140 -related skeletal ciliopathy

Journal of AAPOS, 2014-04, Vol.18 (2), p.203-205

2014

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Results of fibrillin-1 gene analysis in children from inbred families with lens subluxation

Journal of AAPOS, 2014-04, Vol.18 (2), p.134-139

2014

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Loss of Ca v 1.3 ( CACNA1D ) function in a human channelopathy with bradycardia and congenital deafness

Nature neuroscience, 2011-01, Vol.14 (1), p.77-84

2011

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Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness

Nature neuroscience, 2011-01, Vol.14 (1), p.77-84

2011

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An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians

European journal of human genetics : EJHG, 2009-01, Vol.17 (1), p.80-84

2009

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Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies

PloS one, 2013-11, Vol.8 (11), p.e78496-e78496

2013

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Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa

An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease

PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

The tectonic complex regulates membrane protein composition in the photoreceptor cilium

A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula

Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation

Reticular Pseudodrusen in Sorsby Fundus Dystrophy

Ophthalmic Features of Children Not Yet Diagnosed with Alstrom Syndrome

Expanding the phenotypic spectrum and clinical severity associated with WLS gene

A novel large in-frame FBN1 deletion causes neonatal Marfan syndrome

Peripherin mutations cause a distinct form of recessive Leber congenital amaurosis and dominant phenotypes in asymptomatic parents heterozygous for the mutation

First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene

Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations

TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)

Comprehensive Geno- and Phenotyping in a Complex Pedigree Including Four Different Inherited Retinal Dystrophies

Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies

NGS: Gestern, heute und morgen

Reply to "Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype" by Nuovo et al

Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy

Early-onset severe retinal dystrophy as the initial presentation of IFT140 -related skeletal ciliopathy

Results of fibrillin-1 gene analysis in children from inbred families with lens subluxation

Loss of Ca v 1.3 ( CACNA1D ) function in a human channelopathy with bradycardia and congenital deafness

Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness

An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians

Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies

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